The Contributions of the Ribosome Biogenesis Protein Utp5/WDR43 to Craniofacial Development.
| Autor: | Sondalle SB; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Baserga SJ; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, CT, USA Department of Therapeutic Radiology, Yale University School of Medicine, New Haven, CT, USA., Yelick PC; Department of Orthodontics, Division of Craniofacial and Molecular Genetics, Tufts University, Boston, MA, USA pamela.yelick@tufts.edu. |
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| Jazyk: | angličtina |
| Zdroj: | Journal of dental research [J Dent Res] 2016 Oct; Vol. 95 (11), pp. 1214-20. Date of Electronic Publication: 2016 May 24. |
| DOI: | 10.1177/0022034516651077 |
| Abstrakt: | Fairly recently, it was recognized that human ribosomopathies-developmental defects caused by mutations in ribosome biogenesis proteins-can exhibit tissue-specific defects rather than the expected global defects. This apparent anomaly-that seemingly ubiquitously expressed and required ribosomal proteins can have distinct functions in cell and tissue differentiation-has spurred new areas of research focused on better understanding translational mechanisms, biogenesis, and function in diverse cell types. This renewed appreciation for, and need to better understand, roles for ribosomal proteins in human development and disease has identified surprising similarities and differences in a variety of human ribosomopathies. Here, we discuss ribosomal protein functions in health and disease, focusing on the ribosome biogenesis protein Utp5/WDR43. New and exciting research in this field is anticipated to provide insight into a variety of previously understudied craniofacial dysostoses and result in significantly improved knowledge and understanding of roles for translational machinery in human craniofacial development and disease. Competing Interests: The authors declare no potential conflicts of interest with respect to the authorship and/or publication of this article. (© International & American Associations for Dental Research 2016.) |
| Databáze: | MEDLINE |
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